Full data view for gene CRY1

Information The variants shown are described using the NM_004075.4 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 11i c.1657+3A>C r.1586_1657del p.Ser529_Gly553delinsArg Parent #1 - pathogenic g.107386740T>G g.106992962T>G - - CRY1_000001 variant protein detected on WB PubMed: Patke 2017, Journal: Patke 2017 - rs184039278 Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - - DSPD 28388406-FamPatTAU11 PubMed: Patke 2017, Journal: Patke 2017 4-generation family, 5 affecteds (4F, M), 1 probably affected (M) F no United States - - - - - 6 Johan den Dunnen
+/. 11i c.1657+3A>C r.(1586_1657del) p.(Ser529_Gly553delinsArg) Parent #1 - pathogenic g.107386740T>G g.106992962T>G - - CRY1_000001 variant protein detected on WB PubMed: Patke 2017, Journal: Patke 2017 - rs184039278 Germline yes - - - - DNA SEQ - - DSPD 28388406-FamDSPD-1 PubMed: Patke 2017, Journal: Patke 2017 4-generation family, 3 affecteds (3F), 2 probably affected (F, M) F;M no Turkey - - - - - 5 Johan den Dunnen
+/. 11i c.1657+3A>C r.(1586_1657del) p.(Ser529_Gly553delinsArg) Parent #1 - pathogenic g.107386740T>G g.106992962T>G - - CRY1_000001 variant protein detected on WB PubMed: Patke 2017, Journal: Patke 2017 - rs184039278 Germline yes - - - - DNA SEQ - - DSPD 28388406-FamDSPD-4 PubMed: Patke 2017, Journal: Patke 2017 4-generation family, 17 affecteds (8F, 9M), 3 probably affected (F, 2M) F;M yes Turkey - - - - - 20 Johan den Dunnen
+/. 11i c.1657+3A>C r.(1586_1657del) p.(Ser529_Gly553delinsArg) Both (homozygous) - pathogenic g.107386740T>G g.106992962T>G - - CRY1_000001 variant protein detected on WB PubMed: Patke 2017, Journal: Patke 2017 - rs184039278 Germline yes - - - - DNA SEQ - - DSPD 28388406-FamDSPD-4 PubMed: Patke 2017, Journal: Patke 2017 8 homozygous cases F;M yes Turkey - - - - - 8 Johan den Dunnen
+/. 11i c.1657+3A>C r.(1586_1657del) p.(Ser529_Gly553delinsArg) Parent #1 - pathogenic g.107386740T>G g.106992962T>G - - CRY1_000001 variant protein detected on WB PubMed: Patke 2017, Journal: Patke 2017 - rs184039278 Germline yes - - - - DNA SEQ - - DSPD 28388406-FamDSPD-6 PubMed: Patke 2017, Journal: Patke 2017 4-generation family, 7 affecteds (3F, 4M), 2 probably affected (F, M), 1 probably not affected (M) F;M no Turkey - - - - - 10 Johan den Dunnen
+/. 11i c.1657+3A>C r.(1586_1657del) p.(Ser529_Gly553delinsArg) Parent #1 - pathogenic g.107386740T>G g.106992962T>G - - CRY1_000001 variant protein detected on WB PubMed: Patke 2017, Journal: Patke 2017 - rs184039278 Germline yes - - - - DNA SEQ - - DSPD 28388406-FamDSPD-7 PubMed: Patke 2017, Journal: Patke 2017 3-generation family, 1 affected (F), 1 probably affected (F) F no Turkey - - - - - 2 Johan den Dunnen
+/. 11i c.1657+3A>C r.(1586_1657del) p.(Ser529_Gly553delinsArg) Parent #1 - pathogenic g.107386740T>G g.106992962T>G - - CRY1_000001 variant protein detected on WB PubMed: Patke 2017, Journal: Patke 2017 - rs184039278 Germline yes - - - - DNA SEQ - - DSPD 28388406-FamDSPD-9 PubMed: Patke 2017, Journal: Patke 2017 3-generation family, 1 affected (M) M no Turkey - - - - - 1 Johan den Dunnen
+/. 11i c.1657+3A>C r.(1586_1657del) p.(Ser529_Gly553delinsArg) Parent #1 - pathogenic g.107386740T>G g.106992962T>G - - CRY1_000001 variant protein detected on WB PubMed: Patke 2017, Journal: Patke 2017 - rs184039278 Germline yes - - - - DNA SEQ - - DSPD 28388406-FamDSPD-14 PubMed: Patke 2017, Journal: Patke 2017 3-generation family, 3 affecteds (2F, M), 1 probably affected (F) F;M no Turkey - - - - - 4 Johan den Dunnen
-?/. - c.1657+3A>C r.spl? p.? Unknown - likely benign g.107386740T>G - CRY1(NM_004075.4):c.1657+3A>C (p.?) - CRY1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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